Canonical Allele Identifier: CA413851338

Gene: COL4A5

Linked Data

• dbSNP Id: rs2067013792
• gnomAD v4: X-108620301-C-G
• COSMIC: COSM2736979 ; COSM4376621
• MyVariant Identifiers: chrX:g.107863531C>G (hg19) ; chrX:g.108620301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620301C>G , CM000685.2:g.108620301C>G	GRCh38
NC_000023.10:g.107863531C>G , CM000685.1:g.107863531C>G	GRCh37
NC_000023.9:g.107750187C>G	NCBI36
NG_011977.1:g.185378C>G
NG_011977.2:g.185378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2552C>G MANE Select	ENSP00000331902.7:p.Pro851Arg
ENST00000361603.7:c.2552C>G	ENSP00000354505.2:p.Pro851Arg
ENST00000328300.10:c.2552C>G	ENSP00000331902.6:p.Pro851Arg
ENST00000361603.6:c.2552C>G	ENSP00000354505.2:p.Pro851Arg
ENST00000483338.1:n.2008C>G
NM_000495.4:c.2552C>G	NP_000486.1:p.Pro851Arg
NM_033380.2:c.2552C>G	NP_203699.1:p.Pro851Arg
XM_005262070.2:c.2552C>G	XP_005262127.1:p.Pro851Arg
XM_005262072.3:c.2552C>G	XP_005262129.1:p.Pro851Arg
XM_006724616.2:c.2552C>G	XP_006724679.1:p.Pro851Arg
XM_011530849.1:c.2228C>G	XP_011529151.1:p.Pro743Arg
XM_011530850.1:c.2552C>G	XP_011529152.1:p.Pro851Arg
XM_011530851.1:c.125C>G	XP_011529153.1:p.Pro42Arg
XM_011530849.2:c.2567C>G	XP_011529151.2:p.Pro856Arg
XM_017029259.2:c.2567C>G	XP_016884748.1:p.Pro856Arg
XM_017029260.1:c.2567C>G	XP_016884749.1:p.Pro856Arg
XM_017029261.1:c.2567C>G	XP_016884750.1:p.Pro856Arg
XM_017029262.2:c.2567C>G	XP_016884751.1:p.Pro856Arg
XM_017029263.2:c.887C>G	XP_016884752.1:p.Pro296Arg
NM_000495.5:c.2552C>G	NP_000486.1:p.Pro851Arg
NM_033380.3:c.2552C>G MANE Select	NP_203699.1:p.Pro851Arg